Complete sequencing by Pyrosequencing of APOB gene of patients with clinical diagnosis of Familial Hypercholesterolaemia
Familial hypercholesterolemia (FH) is a monogenic condition caused in most cases by mutations in LDLR gene, but mutations in APOB and PCSK9 genes are also cause of FH. These 3 genes are currently studied in the “Portuguese FH Study”. From the 404 families with a clinical diagnosis of FH studied, onl...
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| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2012
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| Texto completo: | http://hdl.handle.net/10400.18/383 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/383 |